Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001761444 | SCV002000857 | uncertain significance | not provided | 2020-03-04 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Mendelics | RCV002246477 | SCV002517888 | uncertain significance | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002370290 | SCV002688645 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-12-20 | criteria provided, single submitter | clinical testing | The p.W3055S variant (also known as c.9164G>C), located in coding exon 62 of the ATM gene, results from a G to C substitution at nucleotide position 9164. The tryptophan at codon 3055 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV002544117 | SCV003502349 | uncertain significance | Ataxia-telangiectasia syndrome | 2022-07-12 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ATM protein function. ClinVar contains an entry for this variant (Variation ID: 1312556). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 3055 of the ATM protein (p.Trp3055Ser). |